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Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 7, p. 1146, doi. 10.1111/j.1528-1167.2012.03501.x
By:
- Vignoli, Aglaia;
- Borgatti, Renato;
- Peron, Angela;
- Zucca, Claudio;
- Ballarati, Lucia;
- Bonaglia, Clara;
- Bellini, Melissa;
- Giordano, Lucio;
- Romaniello, Romina;
- Bedeschi, Maria Francesca;
- Epifanio, Roberta;
- Russo, Silvia;
- Caselli, Rossella;
- Giardino, Daniela;
- Darra, Francesca;
- La Briola, Francesca;
- Banderali, Giuseppe;
- Canevini, Maria Paola
Publication type:
Article
The phenotype of recurrent 10q22q23 deletions and duplications.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211
By:
- van Bon, Bregje W. M.;
- Balciuniene, Jorune;
- Fruhman, Gary;
- Nagamani, Sandesh Chakravarthy Sreenath;
- Broome, Diane L.;
- Cameron, Elizabeth;
- Martinet, Danielle;
- Roulet, Eliane;
- Jacquemont, Sebastien;
- Beckmann, Jacques S;
- Irons, Mira;
- Potocki, Lorraine;
- Lee, Brendan;
- Sau Wai Cheung;
- Patel, Ankita;
- Bellini, Melissa;
- Selicorni, Angelo;
- Ciccone, Roberto;
- Silengo, Margherita;
- Vetro, Annalisa
Publication type:
Article
Piebald Trait: Implication of kit Mutation on In Vitro Melanocyte Survival and on the Clinical Application of Cultured Epidermal Autografts.
Published in:
Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 676, doi. 10.1038/sj.jid.5700639
By:
- Bondanza, Sergio;
- Bellini, Melissa;
- Roversi, Gaia;
- Raskovic, Desanka;
- Maurelli, Riccardo;
- Paionni, Emanuel;
- Paterna, Patrizia;
- Dellambra, Elena;
- Larizza, Lidia;
- Guerra, Liliana
Publication type:
Article
First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.
Published in:
Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00464
By:
- Straniero, Letizia;
- Rimoldi, Valeria;
- Soldà, Giulia;
- Bellini, Melissa;
- Biasucci, Giacomo;
- Asselta, Rosanna;
- Duga, Stefano
Publication type:
Article
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.
Published in:
Behavioural Neurology, 2024, v. 2024, p. 1, doi. 10.1155/2024/1023861
By:
- Spagnoli, Carlotta;
- Battini, Roberta;
- Manti, Filippo;
- Cordelli, Duccio Maria;
- Pession, Andrea;
- Bellini, Melissa;
- Bordugo, Andrea;
- Cantalupo, Gaetano;
- P., Antonella Riva
Publication type:
Article
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
Published in:
Genes, 2023, v. 14, n. 9, p. 1828, doi. 10.3390/genes14091828
By:
- Rizzi, Susanna;
- Spagnoli, Carlotta;
- Bellini, Melissa;
- Cesaroni, Carlo Alberto;
- Spezia, Elisabetta;
- Bergonzini, Patrizia;
- Caramaschi, Elisa;
- Soliani, Luca;
- Turco, Emanuela Claudia;
- Piccolo, Benedetta;
- Demuth, Laura;
- Cordelli, Duccio Maria;
- Biasucci, Giacomo;
- Frattini, Daniele;
- Fusco, Carlo
Publication type:
Article
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Published in:
Genes, 2023, v. 14, n. 6, p. 1241, doi. 10.3390/genes14061241
By:
- Barili, Valeria;
- Ambrosini, Enrico;
- Uliana, Vera;
- Bellini, Melissa;
- Vitetta, Giulia;
- Martorana, Davide;
- Cannizzaro, Ilenia Rita;
- Taiani, Antonietta;
- De Sensi, Erika;
- Caggiati, Patrizia;
- Hilton, Sarah;
- Banka, Siddharth;
- Percesepe, Antonio
Publication type:
Article

Found: 7

Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature.

The phenotype of recurrent 10q22q23 deletions and duplications.

Piebald Trait: Implication of kit Mutation on In Vitro Melanocyte Survival and on the Clinical Application of Cultured Epidermal Autografts.

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.